Canonical Allele Identifier: CA346944017
Gene: PEX13 HGNC NCBI

Linked Data

gnomAD v4: 2-61031931-G-C
MyVariant Identifiers: chr2:g.61259066G>C (hg19) chr2:g.61031931G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61031931G>C , CM000664.2:g.61031931G>C GRCh38
NC_000002.11:g.61259066G>C , CM000664.1:g.61259066G>C GRCh37
NC_000002.10:g.61112570G>C NCBI36
NG_008665.1:g.19255G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.605G>C MANE Select ENSP00000295030.4:p.Arg202Thr
ENST00000295030.5:c.605G>C ENSP00000295030.4:p.Arg202Thr
NM_002618.3:c.605G>C NP_002609.1:p.Arg202Thr
XM_011532904.1:c.488G>C XP_011531206.1:p.Arg163Thr
NM_002618.4:c.605G>C MANE Select NP_002609.1:p.Arg202Thr
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